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Varianty chromozomu 9 u člověka - od normy k patologii Epidemiologie a význam v klinické genetické praxi. / Variants of human chromosome 9 - from norm to pathology Epidemiology and significance for medical genetics.Šípek, Antonín January 2019 (has links)
Heterochromatin variants of human chromosome 9 belong to the most common variabilities of human karyotype. The variability involves the large block of constitutive heterochromatin in the pericentric region of chromosome 9, which is composed of various types of repetitive DNA sequences. Those variants can be studied from population epidemiologic, molecular cytogenetic and clinical genetic point of view. We have performed a broad epidemiologic study of the incidence of pericentric inversion of chromosome 9 (inv(9)) and other variants of chromosome 9 in 6 different laboratory cohorts, which included the evaluation of more than 26.000 of cytogenetic reports, the study we published is currently the largest in the world. We expressed the overall incidence of inv(9) to be 1.6% and the total incidence of variants of chromosome 9 to be 3.3-3.9%. Inv(9) was more common in females, however the difference was not statistically significant. Molecular cytogenetic part of the project was based on our own diagnostic approach, which involved the combination of three different commercial FISH probes. Combination of those probes allowed us to differentiate particular subvariants of chromosome 9, which cannot be analyzed only by using G- or C-banding. Using our method, we tested 49 carriers of chromosome 9...
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Testování vývojové dyspraxie u dětí a adolescentů bojových umění - judo a taekwondo / Testing of Developmental Dyspraxia in Children and Adolescents in Martial Arts - Judo and TaekwondoHrbková, Lucie January 2021 (has links)
The aim of this thesis is to evaluate the level of motor skills in children and adolescents dealing with judo and taekwondo and to determine whether the level of motor skills differs between children with a suspected risk of ADHD (Attention Deficit Hyperactivity Disorder) compared to children without this risk. Another aim of this study is to evaluate the level of attention and find out whether it correlates with the level of motor skills. A total of 65 probands aged 9-13 years participated in the study. The experimental groups consisted of children competing in judo (n = 35), children practicing taekwondo (n = 19) and children attending taekwondo classes in physical education and hobby groups (n = 11). The Movement Assessment Battery for Children 2 test was chosen to test motor skills. To detect a suspected risk of ADHD was used the Test Go / NoGo and the level of attention was tested by theTest of attention d2. A significant difference in favour of judists was found between the results of motor skills of children and adolescents in comparison with the racing group of taekwondists (p = 0.045) and also in the results of individual components, namely in the balance component (p = 0.051). A significant difference was found in motor skills among children with a suspected risk of ADHD compared to...
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Dítě s diagnózou ADHD na prvním stupni (kasuistická studie) / A child diagnosed with ADHD at Primary school (casuistic study)SLANAŘOVÁ, Lucie January 2008 (has links)
This thesis deals with child problems with ADHD/ADD at Primary school and their next diagnosis.The aim of the theoretical part was to focus on the latest and available knowledge in the sphere of education and upbringing. Some thematical plans were analysed and they consider of ADHD/ADD and Specific learning disorders.The aim of the practical part was the analysis of school experience with children with ADHD/ADD. The problem was assessed from many points of view through casuists and interview with children, teachers, parents or assistents. That comes from the theoretical part.
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Rodina a dítě se syndromem hyperaktivity s poruchou pozornosti / The Family and Child with the syndrome of hyperactivity with attention deficit disorderKOKEŠOVÁ, Lenka January 2017 (has links)
This dissertation named Family and child with hyperactivity syndrome and attention deficit (hereinafter child with ADHD - Attention Deficit Hyperactivity Disorders) is concerning with problems of families which are bringing up, caring and a looking after a child with ADHD. The aim of the dissertation is mapping of life of a family with child suffering from ADHD. Furthermore to describe how such a family perceives behavior of other people from the surrounding towards such a family. Also how a child with ADHD syndrome intervene in a life of its siblings and social functioning of its own family. Within the dissertation there is determined one important question "What is like a life of a family with a child suffering from ADHD syndrome". Theoretical part of the dissertation describes ADHD syndrome. How is it possible to influence ADHD and what are latest medical treatments of children and adults. Within the theoretical part attention is also given to the educational possibilities for children with ADHD, family relationships and potentially socially dangerous effects of children and adults influenced by ADHD syndrome. For the empiric part of the dissertation was chosen method of qualitative research via technique of semi-structured interview containing 26 questions led with 7 mothers of children suffering from ADHD syndrome. Questions are directed at social functioning of each family and their family life. The findings are showing that family life where there is a child with ADHD is directly and strongly influenced. Children with ADHD syndrome need more care than other children in the family and this causes unease and uneven relations between siblings. Children with syndrome do not achieve results matching their intelligence, they lag behind their potential. It was proved that older children show socially dangerous effects such as tobacco or drug addiction. Also the whole family is often seen in by the public in a negative light. This dissertation can be beneficial to parents of children with ADHD syndrome who can compare their feelings with feelings and experience of other parents who have a child affected with such disorder.
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Sexualita pacientek po prosté a radikální hysterektomii pro zhoubné nebo nezhoubné gynekologické onemocnění / Sexuality of patients after simple and radical hysterectomy for bening or malignant gynaecologic diseaseVrzáčková, Petra January 2013 (has links)
Background: Cervical carcinoma is frequently diagnosis of young, sexually active women. Radical hysterectomy, as a basic therapeutic modality of early stages of cervical cancer, has very positive oncogynaecologic results. On the opposite site it has it's significant morbidity including bladder and rectal dysfunctions, lymphedemas, and deterioration in patient's sexual life. Methods: Data of forty one patients undergoing radical hysterectomy for cervical cancer were used for analysis, as well as data of forty nine patients undergoing simple hysterectomy for benign gynacologic disease and fifty three healthy controls Participants filled out sexual function and quality of life questionnaires before surgery and three and six months postoperatively. Results: The most important finding was statistically significant worsening in objective arousal in cervical cancer patients (p = 0,041). Also decrease in libido and higher frequency of dyspareunia was registered. Patients undergoing simple hysterectomy showed decreasing trend in sexual dysfunctions, mainly in severe dyspareunia. Conclusions: Radical hysterectomy for cervical carcinoma has a risk of arousal disorder, libido decrease and worsening of dyspareunia. Psychosexual counselling decreases frequency of early postoperative sexual dysfunctions.
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Rodinný a školní život dítěte s obsedantně kompulzivní poruchou / Family and school life of children with Obsessive-compulsive disorderPokorná, Kateřina January 2013 (has links)
This thesis deals with the complications that brings obsessive-compulsive disorder (OCD) school-age children in the family and school life. It consists of two parts - theoretical and practical. The theoretical part is divided into the seven chapters and is drawn from the knowledge of professional literature and Internet sources. This section consists of basic information about OCD, the etiology, diagnosis, treatment options. The last three chapters deal with the consequences of obsessive-compulsive disorder and problems that OCD brings to family and school life. The practical part is an empirical investigation dealing with the main objective of the work, which is based on an analysis of complications that brings obsessive-compulsive disorder of school-age children in the family and school life. Survey results was achieved through open, axial and selective coding, which allowed delineation create grounded theory. It was found that OCD manifests in childhood and brings negative consequences not only for family but also for the school life of the child, especially in the form of disturbed domestic atmosphere and the inability to concentrate on teaching.
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Testování dyspraxie u dětí a adolescentů tancujících akrobatický rokenrol a u dětí a adolescentů se specifickými abnormitami / Testing dyspraxia of children and adolescents dancing acrobatic rock'n'roll and of children and adolescents with specific abnormalities.Metlická, Martina January 2015 (has links)
Bibliographic identification METLICKÁ, Martina. Testing dyspraxia of children and adolescents dancing acrobatic rock'n'roll and of children and adolescents with specific abnormalities. Prague: Charles University, 2nd Faculty of Medicine, Department of rehabilitation and sports medicine, 2015. 91p. Supervisor MUDr. Josef Kraus, CSc. Abstract The theoretical part of this thesis briefly summarizes the findings of developmental dyspraxia and briefly characterizes different diseases encountered by tested subjects from a test sample of children with specific abnormalities, neurofibromatosis type 1 and Asperger's syndrome, and explores their relationship with developmental dyspraxia. The possibility of using dance therapy is also mentioned. The practical part is focused on evaluating the level of motor skills of children with specific abnormalities and children's rock and roll dancers using the Movement Assessment Battery for Children 2. Another objective is to determine whether the level of motor skills correlates with the level of attention tested by the Test of attention d2. The final goal is to assess the degree of physical activity of rock and roll dancers using the accelerometer ActiGraph GT3X. We confirm the presence of motor difficulties of children with specific abnormalities, however we did not confirm...
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Specifika motorického vývoje dětí s poruchou autistického spektra / Specifics of motor development in children with autism spectrum disorderKudrnová, Terezie January 2015 (has links)
Title: Specifics of motor development in children with autism spectrum disorder Objectives: The aim of this thesis is to summarize the accessible literary sources about possibilities of early diagnostic of autism spectrum disorders, characteristic features of motor development and presence of movement and other abnormalities during early development in children who were later diagnosed with some disorder of autism spectrum. Methods: The study is divided into two main parts. In the first part, general information about autism spectrum disorders is presented. The ethiopatogenesis, characteristic features and different types of autism spectrum disorders are described. The second, descriptively analitical part, contains a brief description and resume of many studies, which deal with early identification of autism spectrum disorder, with examination of features of autism spectrum disorder in early development and motor abnormalities in individuals with autism spectrum disorder or high risk infants. Results: The results of this study indicate, that there are differences in social behaviour, motor development and specific autistic features already in the early development of children later diagnosed with autism spectrum disorder. Among motor abnormalities in early development in this children there are...
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Vývojová porucha koordinace/vývojová dyspraxie u pacientů s idiopatickou skoliózou - pilotní studie / The developmental coordination disorder/developmental dyspraxia in patients with the idiopathic scoliosis - A Pilot StudyMašíková, Darina January 2016 (has links)
The thesis is foccused on the problematics of the developmental coordination disorder and its presence within the patiens with the idiopathic scoliosis. The theoretical part deals with the explanation of the terms of developmental coordination disorder, sensory integration and idiopathic scoliosis. The experimental part looks for the connection among the idiopathic scoliosis and the dvelopmental dyspraxia. Thirty patients took part in it. Eighteen of them were patiens with the idiopathic scoliosis, these were divided into two groups according to the age. The first group at the age of 7 to 10 years counted four patiens, the other group from 11 to 16 years contained fourteen patiens. The controll group involved twelve children from the fifth class of the common primary school. The children were tested by the standardized Movement Assessment Battery for Children 2 (MABC-2). Furthermore the measurement was completed by two questionnaires for parents. In the DCDQ'07 they assessed the motor abilities of their child compared to children of the same age and gender. The other questionnaire was aimed at closer information obout the pregnancy, development of the child, presence of any disease or impairment, etc. The difference between motor skills of children with the idiopathic scoliosis and the controll group in...
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Lingvistická hra a dyslexie ve výuce francouzštiny / Dyslexia and language game in classes of FrenchJašková, Petra January 2011 (has links)
Title of the thesis: Dyslexia and language game in classes of French Keywords: Game, activity, dyslexia, dysgraphia, dysortographia, special learning disability, reeducation. Abstract: This thesis deals with dyslexia and language play in ELF classes. It offers games and activities that can meet the needs of dyslexic students and thus contribute to their rehabilitation. The games are designed specifically for younger beginners and can be recommended primarily for integrated classes. This thesis aims to become a tool for teachers in the selection of appropriate play activities.
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